Therapeutic Calcium-Handling Protein Targets of Centronuclear Myopathy

中核肌病的钙处理蛋白治疗靶点

• 批准号: 367318
• 负责人: Rietze Bradley A
• 金额: $ 1.27万
• 依托单位: University of Waterloo (Ontario)
• 依托单位国家: 加拿大
• 项目类别: Studentship Programs
• 财政年份: 2016
• 资助国家: 加拿大
• 起止时间: 2016-12-01 至 2017-12-01
• 项目状态: 已结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=367318&lang=en
• 关键词: Calcium Signalling; Centronuclear Myopathy (Cnm); Histology; Muscle Disease; Muscle Function; Myotubular Myopathy; Myotubularin (Mtm1); Phospholamban (Pln); Sacrolipin (Sln); Sarco-Endoplasmic Reticulum Calcium Atpase (Serca)

Centronuclear myopathy (CNM) is a rare group of genetic muscle disorders that cause mild to profound muscle weakness. Several genetic forms of CNM exist, including myotubular myopathy (Mtm1-linked CNM), BIN1-, Dnm2-, and RyR1-linked CNMs. Myotubular myopa

中央核肌病(CNM)是一种罕见的遗传性肌肉疾病，可导致轻度至严重的肌肉无力。CNM有几种遗传形式，包括肌小管肌病(Mtm1连锁CNM)、BIN1连锁CNM、Dnm2连锁CNM和RyR1连锁CNM。肌管性近视